Diagnosis of pheochromocytoma and laparoscopic adrenalectomy in two anephric patients with von Hippel-Lindau disease.

This study reports the first two cases of laparoscopic treatment of functional pheochromocytomas in patients with von Hippel-Lindau (VHL) disease receiving regular dialysis treatment. The genetic changes predisposing to pheochromocytoma, diagnostic procedures, and surgical management were analyzed. Both patients were considered at low risk of developing pheochromocytoma because they belonged to VHL families with 10 and 25 affected relatives without pheochromocytoma (VHL type 1 families). The mutation responsible for the disease was a stop codon in one case and a missense change in the other. Multiple renal cell carcinomas had required removal of the kidneys at age 37 in one patient and age 25 in the other patient. Computed tomography scan was crucial for diagnosis, showing a unilateral enlarged adrenal gland after 3 and 6 years on regular dialysis. No change in blood pressure was observed. MIBG scintigraphy was negative. Plasma epinephrine in one case and dopamine in the other were increased compared with patients on hemodialysis without pheochromocytoma. Pheochromocytomas were removed successfully by laparoscopic adrenalectomy. Lifelong follow-up of all affected tissues is required in all VHL patients, and pheochromocytoma should be screened for even in the absence of family history in large kindreds. Computed tomography scan allows early recognition, and patients on hemodialysis are responsive to laparoscopic adrenalectomy.